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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessBrain vessel malformations, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for brain vessel malformations comprising 11 or 33 curated genes according to the clinical signs

ID
GP7766
Number of genes
29 Accredited laboratory test
Examined sequence length
21,5 kb (Core-/Core-canditate-Genes)
99,4 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
ACTA21134NM_001613.4AD
ACVRL11512NM_000020.3AD
CCM21335NM_031443.4AD
COL3A14401NM_000090.4AD, AR
ENG1878NM_000118.3AD
KRIT12211NM_194456.1AD
PDCD10639NM_145860.2AD
RASA13144NM_002890.3AD
SAMHD11881NM_015474.4AR
SLC2A101626NM_030777.4AR
SMAD41659NM_005359.6AD
ADA21536NM_001282225.2AR
ATR7935NM_001184.4AR
CBL2721NM_005188.4AD
CEP1524965NM_014985.4AR
EPHB42964NM_004444.5AD
FLVCR21581NM_017791.3AR
GDF21290NM_016204.4AD
GUCY1A12073NM_000856.6AR
HBB444NM_000518.5AR
IRAG12715NM_001098579.3n.k.
MYH115919NM_002474.3AD
NF18457NM_001042492.3AD
PCNT10011NM_006031.6AR
PKD22907NM_000297.4AD
RNF21315624NM_001256071.3AD, AR
SMAD91404NM_001127217.3AD
THSD12563NM_018676.4AD
YY1AP12823NM_001198899.2AR

Informations about the disease

Clinical Comment

Heterogenous group of diseases

 

Synonyms
  • Alias: Grange occlusive arterial syndrome (YY1AP1)
  • Allelic: Aortic aneurysm familial thoracic 6 (ACTA2)
  • Allelic: Intellectual developmental disorder, speech delay, autism + dysmorphic facies (CNOT3)
  • Allelic: Lymphatic malformation 7 (EPHB4)
  • Allelic: Mental retardation, AD 23 (SETD5)
  • Allelic: Microcephaly 9, primary, AR (CEP152)
  • Allelic: Multisystemic smooth muscle dysfunction syndrome (ACTA2)
  • Allelic: Pulmonary arterial hypertension, hereditary (ACVRL1)
  • Allelic: Pulmonary hypertension, primary, 2 (SMAD9)
  • Aneurysm, intracranial berry, 12 (THSD1)
  • Arterial tortuosity syndrome; "Moyamoya" (SLC2A10)
  • Brain aneurysm [MONDO:0005291] (ANGPTL6)
  • Capillary malformation-arteriovenous malformation (CCM2)
  • Capillary malformation-arteriovenous malformation (RASA1)
  • Capillary malformation-arteriovenous malformation 2 (EPHB4)
  • Cavernous malformations of CNS + retina (KRIT1)
  • Cerebral cavernous malformations 3 (PDCD10)
  • Cerebral cavernous malformations-1 (KRIT1)
  • Chilblain lupus 2; Aicardi-Goutieres syndrome 5; "Moyamoya" (SAMHD1)
  • Cutaneous telangiectasia + cancer syndrome, familial (ATR)
  • Early-onset "Moyamoya" angiopathy (CBL)
  • Ehlers-Danlos syndrome, type IV (COL3A1)
  • Grange syndrome (YY1AP1)
  • Hyperkeratotic cutaneous capillary-venous malformations, cerebral capillary malformations (KRIT1)
  • Intellectual disability-facial dysmorphism syndrome, haploinsufficiency [MONDO:00143369] (SETD5)
  • Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome (SMAD4)
  • Moyamoya disease (NF1)
  • Moyamoya disease (PCNT)
  • Moyamoya disease 2, susceptibility to (RNF213)
  • Moyamoya disease 5 (ACTA2)
  • Moyamoya disease 6 with achalasia (GUCY1A3)
  • Moyamoya disease [MONDO:0016820] (CNOT3)
  • Moyamoya disease [MONDO:0016820] (SETD5)
  • Moyamoya-like angiopathy (MYH11)
  • Parkes Weber syndrome (RASA1)
  • Polycystic kidney disease 1 (PKD1)
  • Polycystic kidney disease 2 (PKD2)
  • Proliferative vasculopathy + hydranencephaly-hydrocephaly syndrome (FLVCR2)
  • Seckel syndrome 1 (ATR)
  • Seckel syndrome 5 (CEP152)
  • Sickle cell anemia (HBB)
  • Sifrim-Hitz-Weiss syndrome (CHD4)
  • Sneddon syndrome (ADA2)
  • Telangiectasia, hereditary hemorrhagic, type 1 (ENG)
  • Telangiectasia, hereditary hemorrhagic, type 2 (ACVRL1)
  • Telangiectasia, hereditary hemorrhagic, type 5 (GDF2)
  • Vasculitis, autoinflammation, immunodeficiency, hematologic defects syndrome (ADA2)
Heredity, heredity patterns etc.
  • AD
  • AR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined